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21.
Crigler–Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of performing DNA-based diagnosis. Here we report DNA-based prenatal diagnosis of CN-I in two Tunisian families in whom CN-I patients were diagnosed. As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN-I is possible, provided disease-causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   
22.
The spatial and temporal variations in copepod communities were investigated during four oceanographic cruises conducted between July 2005 and March 2007 aboard the R/V Hannibal. A close relationship was observed between the temperature, salinity, hydrographic properties and water masses characterising the Gulf of Gabes. Indeed, water thermal stratification began in May–June, and a thermocline was established at a 20-m depth, but ranged from 25 m in July to more than 30 m in September. The zooplankton community is dominated by copepods representing 69 % to 83 % of total zooplankton. Spatial and temporal variation of copepods in relation to environmental factors shows their close relationship with the hydrodynamic features of the water column. Thermal stratification in the column, established in summer, supports copepod development. In fact, copepod abundance increases gradually with rising water temperature and salinity, starting from the beginning of thermal stratification (May–June 2006) and lasting until its completion (July 2005 and September 2006). When the water column is well mixed (March 2007), copepod abundance decreased. Our finding shows that temperature and salinity seem to be the most important physical factors and thus strongly influence the taxonomic diversity and distribution of the copepod population. They are characterised by the dominance of Oithona nana, representing 75–86 % of total cyclopoid abundance. The most abundant species during the stratification period were O. nana, Acartia clausi and Stephos marsalensis in July 2005 and September 2006. However, during the mixing period, Euterpina acutifrons was more abundant, representing 21 % of the total. Unlike the copepod community, which is more abundant during the period of high stratification, phytoplankton proliferates during semi-mixed conditions.  相似文献   
23.
We investigated the occurrence of three pharmaceutical residues in four wastewater treatment plants (WWTPs) from northern Tunisia. The selected compounds were carbamazepine, naproxen, and ibuprofen; they are among the most commonly prescribed and widely used pharmaceutical agents worldwide. Samples (200?mL) were pre-concentrated using the solid phase extraction (SPE) enrichment procedure and the analysis of the pharmaceuticals was performed with high-performance liquid chromatography (HPLC-UV). The overall procedure provided limits of detection (LOD) lower than 0.5 µg.L?1and recoveries of 78–97%. For the carbamazepine compound, the mean concentrations were 60.58, 93.19, and 132 µg.L?1 for the Bizerte, Jendouba, and Tunis WWTPs, respectively. This pharmaceutical was not detected in the Beja WWTPs. Naproxen and ibuprofens were not detected in the Jendouba WWTP but were found in the three other WWTPs with concentrations ranging from 2.94 to 36.17 µg.L?1 and from 8.02 to 43.22 µg.L?1, respectively. From the obtained data, it seems that these WWTPs are not able to eliminate this kind of micro-pollutants.  相似文献   
24.
Environmental Science and Pollution Research - Enteric viruses, generally found in sewage, are recognized as the main cause of waterborne and foodborne public health outbreaks. Among leading...  相似文献   
25.
Journal of Material Cycles and Waste Management - Lemon peel waste (LPW) were pyrolysed in a laboratory fixed-bed reactor at final temperature of 300 °C, 400 °C and...  相似文献   
26.
Journal of Material Cycles and Waste Management - This study aimed to determine the quantity and quality of source separated organic household solid waste (SSOHSW) generation in Addis Ababa,...  相似文献   
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